Immunogen sequence: GVRVSPTGEK VTHTGQVYDD KDYRRIRFVG RQKEVNENFA IDLIAEQPVS EVETRVIACD GGGGALGHPK VYINLDKETK TGTCGYCGLQ FRQHHH; Positive Samples: Mouse kidney, Mouse liver, Mouse heart, Rat brain; Cellular Location: Matrix side, Mitochondrion inner membrane, Peripheral membrane protein
This gene encodes a subunit of the NADH:ubiquinone oxidoreductase, which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.
蛋白别名: CI-13kD-A; complex I 13kDa subunit A; complex I, mitochondrial respiratory chain, 13-kD subunit; Complex I-13kD-A; NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; NADH dehydrogenase Fe-S protein 6; NADH ubiquinone oxidoreductase; NADH-ubiquinone oxidoreductase 13 kDa-A subunit; NADH:ubiquinone oxidoreductase NDUFS6 subunit
基因别名: BC059730; CI-13kA; CI-13kD-A; CI13KDA; IP13; Ip13dis; Ndub13; NDUFS6; RATIp13dis